Polydactyly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional.

MalaCards based summary: Polydactyly, also known as non-syndromic polydactyly, is related to short-rib thoracic dysplasia 6 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Polydactyly is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. The drugs Clonidine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are growth/size/body region and nervous system

Disease Ontology: ¹¹ A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.

Wikipedia: ⁷⁵ Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), also... more...

More information from OMIM: 603596

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Related Diseases for Polydactyly

Diseases in the Polydactyly family:

Central Polydactyly

Diseases related to Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 756)

#	Related Disease	Score	Top Affiliating Genes
1	short-rib thoracic dysplasia 6 with or without polydactyly	33.3	GLI3 DYNC2I1 DYNC2H1 CPLANE1 BBS1
2	short-rib thoracic dysplasia 3 with or without polydactyly	33.3	DYNC2I1 DYNC2H1 BBS4
3	polydactyly, preaxial ii	33.2	SHH LMBR1
4	mckusick-kaufman syndrome	33.0	TTC8 MKS1 MKKS GLI3 BBS4 BBS2
5	short-rib thoracic dysplasia 8 with or without polydactyly	33.0	DYNC2I1 DYNC2H1
6	culler-jones syndrome	33.0	SHH GLI3 GLI2
7	short-rib thoracic dysplasia 11 with or without polydactyly	32.9	DYNC2I1 DYNC2H1
8	acrocallosal syndrome	32.9	SHH LMBR1 GLI3 CPLANE1 CC2D2A BBS4
9	orofaciodigital syndrome vi	32.9	GLI3 CPLANE1 CC2D2A
10	tibia, hypoplasia or aplasia of, with polydactyly	32.7	SHH LMBR1 HOXD13 GLI3
11	short-rib thoracic dysplasia 1 with or without polydactyly	32.7	DYNC2I1 DYNC2H1 CPLANE1 CC2D2A
12	ellis-van creveld syndrome	32.6	SHH MKKS GLI3 GLI2 DYNC2I1 DYNC2H1
13	asphyxiating thoracic dystrophy	32.6	SHH MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1
14	bardet-biedl syndrome 1	32.5	MKKS BBS4 BBS2 BBS1
15	pallister-hall syndrome	32.5	SHH LMBR1 HOXD13 GLI3 GLI2
16	meckel syndrome, type 1	32.4	TTC8 SHH MKS1 MKKS GLI3 DYNC2H1
17	bardet-biedl syndrome	32.4	TTC8 MKS1 MKKS GLI3 DYNC2I1 DYNC2H1
18	laurin-sandrow syndrome	32.4	SHH MIPOL1 LMBR1 HOXD13 GLI3
19	bardet-biedl syndrome 11	32.3	TTC8 MKS1 MKKS BBS4 BBS2 BBS1
20	bardet-biedl syndrome 6	32.3	MKKS BBS4 BBS1
21	bardet-biedl syndrome 17	32.2	BBS2 BBS1
22	greig cephalopolysyndactyly syndrome	32.2	SHH LMBR1 HOXD13 GLI3 GLI2
23	joubert syndrome 32	32.1	SHH GLI3 GLI2
24	bardet-biedl syndrome 10	32.1	BBS4 BBS1
25	meckel syndrome, type 3	32.1	MKS1 CC2D2A
26	bardet-biedl syndrome 13	32.1	MKS1 MKKS BBS2
27	bardet-biedl syndrome 19	32.0	TTC8 MKS1 BBS4 BBS2 BBS1
28	fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	32.0	SHH LMBR1 GLI3
29	syndactyly, type iv	32.0	SHH LMBR1 HOXD13 GLI3
30	focal dermal hypoplasia	31.9	SHH GLI3 GLI2
31	holoprosencephaly 9	31.9	SHH GLI3 GLI2
32	orofaciodigital syndrome	31.9	MKS1 GLI3 CPLANE1 CC2D2A BBS4
33	joubert syndrome 1	31.8	TTC8 SHH MKS1 MKKS GLI3 GLI2
34	joubert syndrome 2	31.8	MKS1 CC2D2A
35	bardet-biedl syndrome 18	31.8	TTC8 MKS1 MKKS BBS4 BBS2 BBS1
36	synpolydactyly	31.8	SHH LMBR1 HOXD13 GLI3
37	basal cell nevus syndrome	31.6	SHH GLI3 GLI2 BRCA2
38	apert syndrome	31.6	SHH MEGF8 GLI3
39	situs inversus	31.0	SHH MKS1 DYNC2H1 CC2D2A BBS4 BBS2
40	retinitis pigmentosa	31.0	TTC8 SHH MKS1 MKKS DYNC2H1 CC2D2A
41	chromosome 2q35 duplication syndrome	30.8	TTC8 SHH MKS1 MKKS MEGF8 LMBR1
42	anus, imperforate	30.7	SHH HOXD13 GLI3 GLI2
43	retinal degeneration	30.7	MKKS DYNC2I1 DYNC2H1 BBS4 BBS1
44	encephalocele	30.7	MKS1 CPLANE1 CC2D2A
45	radial hemimelia	30.6	SHH LMBR1
46	cranioectodermal dysplasia	30.6	MKS1 GLI3 DYNC2I1 DYNC2H1 CC2D2A BBS4
47	cone dystrophy	30.6	TTC8 MKKS BBS4 BBS2 BBS1
48	alobar holoprosencephaly	30.5	SHH GLI2
49	coloboma of macula	30.5	SHH MKS1 GLI3 CPLANE1 CC2D2A
50	tetralogy of fallot	30.4	SHH MKKS BBS4 BBS2 BBS1

Graphical network of the top 20 diseases related to Polydactyly:

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Symptoms & Phenotypes for Polydactyly

Clinical features from OMIM®:

603596 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Polydactyly:

⁴⁵ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.48	BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
2	nervous system	MP:0003631	10.44	BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
3	limbs/digits/tail	MP:0005371	10.39	BBS1 BBS2 BRCA2 CC2D2A CPLANE1 DYNC2H1
4	renal/urinary system	MP:0005367	10.37	BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
5	embryo	MP:0005380	10.36	BBS1 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
6	cellular	MP:0005384	10.33	BBS1 BBS2 BBS4 BRCA2 CC2D2A CPLANE1
7	digestive/alimentary	MP:0005381	10.31	BBS2 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
8	craniofacial	MP:0005382	10.29	BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
9	cardiovascular system	MP:0005385	10.25	BBS1 BBS4 CC2D2A CPLANE1 DYNC2H1 DYNC2I1
10	respiratory system	MP:0005388	10.22	BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
11	hearing/vestibular/ear	MP:0005377	10.19	BBS1 BBS4 CC2D2A CPLANE1 GLI2 GLI3
12	normal	MP:0002873	10.18	BBS2 BBS4 BRCA2 ETV2 GLI2 GLI3
13	vision/eye	MP:0005391	10.13	BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
14	reproductive system	MP:0005389	10.07	BBS1 BBS2 BBS4 BRCA2 GLI2 GLI3
15	skeleton	MP:0005390	10.06	BBS2 BRCA2 CPLANE1 DYNC2H1 GLI2 GLI3
16	mortality/aging	MP:0010768	9.91	BBS1 BBS4 BRCA2 CC2D2A CPLANE1 DYNC2H1
17	taste/olfaction	MP:0005394	9.7	BBS1 BBS2 BBS4 GLI3 MKKS SHH
18	integument	MP:0010771	9.32	BBS2 BBS4 BRCA2 CC2D2A GLI2 GLI3

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Drugs & Therapeutics for Polydactyly

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Clonidine

Approved

Phase 4

4205-91-8, 4205-90-7

2803 20179

2

Neurotransmitter Agents

Phase 4

3

Adrenergic alpha-Agonists

Phase 4

4

Adrenergic Agonists

Phase 4

5

Adrenergic Agents

Phase 4

6

Antihypertensive Agents

Phase 4

7

Pharmaceutical Solutions

Phase 4

8

Analgesics

Phase 4

9

Sympatholytics

Phase 4

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Clonidine for Tourniquet-related Pain in Children: A Pilot Study	Recruiting	NCT04564430	Phase 4	Catapresan
2	Genetic and Clinical Studies of Congenital Anomaly Syndromes	Completed	NCT00001404
3	Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention	Completed	NCT01409980

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

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Genetic Tests for Polydactyly

Genetic tests related to Polydactyly:

#	Genetic test	Affiliating Genes
1	Polydactyly ²⁸

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Anatomical Context for Polydactyly

Organs/tissues related to Polydactyly:

MalaCards : Bone, Heart, Kidney, Tongue, Pituitary, Eye, Brain

Sources

Publications for Polydactyly

Articles related to Polydactyly:

(show top 50) (show all 3554)

#	Title	Authors	PMID	Year
1	C5orf42 is the major gene responsible for OFD syndrome type VI. ⁶² ⁵	Lopez E...Attie-Bitach T	24178751	2014
2	Polydactyly: how many disorders and how many genes? ⁶² ⁵⁷	Biesecker LG	12357471	2002
3	Associated anomalies in individuals with polydactyly. ⁶² ⁵⁷	Castilla EE...Salgado LJ	9880209	1998
4	Epidemiological analysis of rare polydactylies. ⁶² ⁵⁷	Castilla EE...Martinez-Frias ML	8923939	1996
5	Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. ⁵	Clarke CM...Cunningham ML	29168297	2018
6	Clinical genetics of craniosynostosis. ⁵	Wilkie AOM...Wall SA	28914635	2017
7	Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. ⁵	Twigg SR...Wilkie AO	23063620	2012
8	New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. ⁵³ ⁶²	Pereiro I...Nishimura D	20142850	2010
9	Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. ⁵³ ⁶²	Hayashi S...Inazawa J	18925664	2008
10	Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. ⁵³ ⁶²	Cannon PS...Lloyd IC	18766993	2008
11	Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. ⁵³ ⁶²	Park K...Park C	18689889	2008
12	Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. ⁵³ ⁶²	Babbs C...Wilkie AO	18272352	2008
13	Holoprosencephaly-Polydactyly syndrome: in search of an etiology. ⁵³ ⁶²	Cordero DR...Muenke M	18178536	2008
14	Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. ⁵³ ⁶²	Bakrania P...Ragge NK	18252212	2008
15	A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. ⁵³ ⁶²	Wang ZQ...Kong X	17300748	2007
16	Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb. ⁵³ ⁶²	Nissim S...Tabin CJ	17300775	2007
17	Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. ⁵³ ⁶²	Huang YQ...Li N	16650944	2006
18	Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). ⁵³ ⁶²	Chiang AP...Sheffield VC	16606853	2006
19	BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. ⁵³ ⁶²	Stoetzel C...Dollfus H	16308660	2006
20	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. ⁵³ ⁶²	Koolen DA...de Vries BBA	16865294	2006
21	Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. ⁵³ ⁶²	Cheng B...Xiao C	16874813	2006
22	Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. ⁵³ ⁶²	Fath MA...Sheffield VC	15772095	2005
23	Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. ⁵³ ⁶²	Mantilla-Capacho JM...Barros-Nunez P	16440883	2005
24	Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. ⁵³ ⁶²	Selever J...Martin JF	15581864	2004
25	An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. ⁵³ ⁶²	Caronia G...Zappavigna V	12620993	2003
26	The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. ⁵³ ⁶²	Riise R...Sheffield VC	12365916	2002
27	The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. ⁵³ ⁶²	Albrecht AN...Mundlos S	11850178	2002
28	Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. ⁵³ ⁶²	Clark RM...Kingsley DM	11606546	2001
29	Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. ⁵³ ⁶²	Mykytyn K...Sheffield VC	11381270	2001
30	The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. ⁵³ ⁶²	Radhakrishna U...Antonarakis SE	10441570	1999
31	Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. ⁵³ ⁶²	Kalff-Suske M...Grzeschik KH	10441342	1999
32	Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. ⁵³ ⁶²	Vargas FR...Muenke M	9600232	1998
33	Point mutations in human GLI3 cause Greig syndrome. ⁵³ ⁶²	Wild A...Grzeschik KH	9302279	1997
34	Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2. ⁶²	Shak C...Stephens DJ	36268591	2023
35	Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls. ⁶²	Burger E...Van Nieuwenhoven C	36125884	2023
36	Reconstruction of polysyndactyly of the fused fifth toe with the fourth toe. ⁶²	Du Z...Han D	36445381	2023
37	Prenatal diagnosis of Bardet Biedl Syndrome: A case report. ⁶²	Arora E...Chervenak J	36406960	2023
38	[Bardet Biedl syndrome: a case report]. ⁶²	Grimberg N...Ferraro M	36374067	2022
39	Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report. ⁶²	Dong X...Gan Y	36340607	2022
40	First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome. ⁶²	Piazza I...Ferrero P	35250252	2022
41	Primary treatment of type B post-axial ulnar polydactyly: A systematic review and meta-analysis. ⁶²	Samarendra H...Jain A	36120500	2022
42	Ulnar dimelia and a rare variant ulnar trimelia: Case reports. ⁶²	Mosquera-Lopez JA...Mosquera-Perea JA	36247697	2022
43	Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype. ⁶²	Shao Y...Shao L	35951741	2022
44	New insights into CC2D2A-related Joubert syndrome. ⁶²	Harion M...Burglen L	36319078	2022
45	New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot. ⁶²	Hirota Y...Yoshida E	36348750	2022
46	Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants. ⁶²	Bjorklund KA...O'Brien M	33631987	2022
47	Characterization of a novel deep intronic variant In DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. ⁶²	Buchh M...Vetrini F	36442996	2022
48	Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft. ⁶²	Chen CP...Wang W	36427972	2022
49	Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. ⁶²	Kalayci T...Kayserili H	36398383	2022
50	A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. ⁶²	Hikoya A...Hotta Y	36341712	2022

Sources

Genes for Polydactyly

Genes related to Polydactyly (6 elite genes):

(show top 50) (show all 107)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	440.23	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
2	MEGF8	Multiple EGF Like Domains 8	Protein Coding	429.71	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	23063620 28914635 29168297
3	HOXD13	Homeobox D13	Protein Coding	416.91	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11850178 12620993
4	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	415.81	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
5	SMAD6	SMAD Family Member 6	Protein Coding	404.1	Pathogenic ⁵ DISEASES inferred ¹⁴
6	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	403.17	Pathogenic ⁵ DISEASES inferred ¹⁴
7	MIPOL1	Mirror-Image Polydactyly 1	Protein Coding	50.9	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins (show sections)
8	GLI3	GLI Family Zinc Finger 3	Protein Coding	47.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10441570 16865294 18272352 (more) 9302279 16874813 10441342 18178536
9	LMBR1	Limb Development Membrane Protein 1	Protein Coding	47.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11606546 16650944 18689889 (more) 17300748
10	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	44.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17300775 9600232 18178536
11	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	43.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16606853 20142850
12	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	43.59	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12365916
13	CPLANE1	Ciliogenesis And Planar Polarity Effector Complex Subunit 1	Protein Coding	39.5	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	24178751
14	ETV2	ETS Variant Transcription Factor 2	Protein Coding	36.08	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	35.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18766993
16	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	35.06	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
17	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	33.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11381270 15772095
18	GLI2	GLI Family Zinc Finger 2	Protein Coding	33.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
19	DYNC2I1	Dynein 2 Intermediate Chain 1	Protein Coding	33.15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
20	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	33.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Summaries (show sections)	16308660
21	DYNC2I2	Dynein 2 Intermediate Chain 2	Protein Coding	33.08	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
22	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	32.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
23	DYNC2LI1	Dynein Cytoplasmic 2 Light Intermediate Chain 1	Protein Coding	32.41	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
24	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	32.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
25	ZNF141	Zinc Finger Protein 141	Protein Coding	32.18	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
26	DYNLT2B	Dynein Light Chain Tctex-Type 2B	Protein Coding	31.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
27	IFT81	Intraflagellar Transport 81	Protein Coding	31.43	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
28	CCND2	Cyclin D2	Protein Coding	30.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
29	GLI1	GLI Family Zinc Finger 1	Protein Coding	24.27	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
30	WDR35	WD Repeat Domain 35	Protein Coding	24.03	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
31	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	23.92	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
32	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	23.84	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
33	KIAA0586	KIAA0586	Protein Coding	23.74	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
34	NEK1	NIMA Related Kinase 1	Protein Coding	23.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
35	IFT172	Intraflagellar Transport 172	Protein Coding	23.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
36	CEP290	Centrosomal Protein 290	Protein Coding	23.62	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
37	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	23.59	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
38	IFT52	Intraflagellar Transport 52	Protein Coding	23.35	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
39	KIAA0825	KIAA0825	Protein Coding	23.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
40	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	23.12	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
41	IQCE	IQ Motif Containing E	Protein Coding	23.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
42	PTCH1	Patched 1	Protein Coding	22.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
43	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	22.7	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
44	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	22.66	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
45	TCTN3	Tectonic Family Member 3	Protein Coding	22.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
46	CIBAR1	CBY1 Interacting BAR Domain Containing 1	Protein Coding	22.38	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
47	PITX1	Paired Like Homeodomain 1	Protein Coding	22.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
48	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	22.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
49	IFT43	Intraflagellar Transport 43	Protein Coding	21.74	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
50	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	21.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)

Sources

Variations for Polydactyly

ClinVar genetic disease variations for Polydactyly:

⁵ (show top 50) (show all 223)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MEGF8	NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs)	DEL	Pathogenic	1162320		GRCh37: 19:42862352-42862352 GRCh38: 19:42358200-42358200
2	HOXD13	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	SNV	Pathogenic	374019	rs200750564	GRCh37: 2:176959246-176959246 GRCh38: 2:176094518-176094518
3	MKS1	NM_017777.4(MKS1):c.1166-2A>C	SNV	Pathogenic	523519	rs1488635637	GRCh37: 17:56285364-56285364 GRCh38: 17:58208003-58208003
4	MKS1	NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	SNV	Pathogenic	1393	rs137853105	GRCh37: 17:56283840-56283840 GRCh38: 17:58206479-58206479
5	overlap with 668 genes	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	CN GAIN	Pathogenic	1703544		GRCh37: 8:158048-146295771 GRCh38:
6	MKS1	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	DEL	Pathogenic	217677	rs754279998	GRCh37: 17:56285514-56285516 GRCh38: 17:58208153-58208155
7	overlap with 25 genes		DEL	Pathogenic	549857		GRCh37: 2:219925666-220914504 GRCh38:
8	CC2D2A	NM_001378615.1(CC2D2A):c.4179+1del	DEL	Pathogenic	56312	rs386833760	GRCh37: 4:15589552-15589552 GRCh38: 4:15587929-15587929
9	BRCA2	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	DEL	Pathogenic	38221	rs397507422	GRCh37: 13:32954261-32954261 GRCh38: 13:32380124-32380124
10	SMAD6	NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)	SNV	Pathogenic	1174559		GRCh37: 15:66995598-66995598 GRCh38: 15:66703260-66703260
11	SMAD6	NM_005585.5(SMAD6):c.1227del (p.Ile410fs)	DEL	Pathogenic	1174576		GRCh37: 15:67073606-67073606 GRCh38: 15:66781268-66781268
12	ETV2	NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	SNV	Likely Pathogenic	1162783		GRCh37: 19:36135178-36135178 GRCh38: 19:35644276-35644276
13	ETV2	NM_014209.4(ETV2):c.350del (p.Gly117fs)	DEL	Likely Pathogenic	1162784		GRCh37: 19:36134288-36134288 GRCh38: 19:35643386-35643386
14	CC2D2A	NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs)	DEL	Likely Pathogenic	1077135		GRCh37: 4:15534845-15534845 GRCh38: 4:15533222-15533222
15	MEGF8	NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)	DEL	Likely Pathogenic	1164007		GRCh37: 19:42880357-42880359 GRCh38: 19:42376205-42376207
16	CPLANE1	NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs)	INDEL	Likely Pathogenic	978621	rs1787294032	GRCh37: 5:37196064-37196064 GRCh38: 5:37195962-37195962
17	CPLANE1	NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs)	MICROSAT	Likely Pathogenic	978622	rs1774291665	GRCh37: 5:37154059-37154060 GRCh38: 5:37153957-37153958
18	GLI3	NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser)	SNV	Uncertain Significance	912024	rs147004305	GRCh37: 7:42005931-42005931 GRCh38: 7:41966333-41966333
19	GLI3	NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser)	SNV	Uncertain Significance	912075	rs1787391168	GRCh37: 7:42012082-42012082 GRCh38: 7:41972483-41972483
20	GLI3	NM_000168.6(GLI3):c.*3002A>G	SNV	Uncertain Significance	910290	rs1484040578	GRCh37: 7:42000926-42000926 GRCh38: 7:41961328-41961328
21	GLI3	NM_000168.6(GLI3):c.*2861T>G	SNV	Uncertain Significance	910291	rs1787010195	GRCh37: 7:42001067-42001067 GRCh38: 7:41961469-41961469
22	GLI3	NM_000168.6(GLI3):c.*1553T>G	SNV	Uncertain Significance	910409	rs1787043241	GRCh37: 7:42002375-42002375 GRCh38: 7:41962777-41962777
23	GLI3	NM_000168.6(GLI3):c.*73C>T	SNV	Uncertain Significance	910584	rs1787093147	GRCh37: 7:42003855-42003855 GRCh38: 7:41964257-41964257
24	GLI3	NM_000168.6(GLI3):c.3786A>G (p.Pro1262=)	SNV	Uncertain Significance	910687	rs368450304	GRCh37: 7:42004885-42004885 GRCh38: 7:41965287-41965287
25	GLI3	NM_000168.6(GLI3):c.*2744T>G	SNV	Uncertain Significance	911505	rs1050141162	GRCh37: 7:42001184-42001184 GRCh38: 7:41961586-41961586
26	GLI3	NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)	SNV	Uncertain Significance	910150	rs565817241	GRCh37: 7:42085033-42085033 GRCh38: 7:42045434-42045434
27	GLI3	NM_000168.6(GLI3):c.-78G>T	SNV	Uncertain Significance	360267	rs886062342	GRCh37: 7:42276605-42276605 GRCh38: 7:42237006-42237006
28	GLI3	NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu)	SNV	Uncertain Significance	360240	rs141220299	GRCh37: 7:42012081-42012081 GRCh38: 7:41972482-41972482
29	GLI3	NM_000168.6(GLI3):c.*1471C>T	SNV	Uncertain Significance	360185	rs886062321	GRCh37: 7:42002457-42002457 GRCh38: 7:41962859-41962859
30	GLI3	NM_000168.6(GLI3):c.*3309C>A	SNV	Uncertain Significance	360157	rs553151369	GRCh37: 7:42000619-42000619 GRCh38: 7:41961021-41961021
31	GLI3	NM_000168.6(GLI3):c.*974T>A	SNV	Uncertain Significance	360199	rs886062328	GRCh37: 7:42002954-42002954 GRCh38: 7:41963356-41963356
32	GLI3	NM_000168.6(GLI3):c.*2676C>T	SNV	Uncertain Significance	360164	rs886062312	GRCh37: 7:42001252-42001252 GRCh38: 7:41961654-41961654
33	GLI3	NM_000168.6(GLI3):c.2146_2150del	DEL	Uncertain Significance	360176	rs774204684	GRCh37: 7:42001778-42001782 GRCh38: 7:41962180-41962184
34	GLI3	NM_000168.6(GLI3):c.*1027C>T	SNV	Uncertain Significance	360197	rs886062326	GRCh37: 7:42002901-42002901 GRCh38: 7:41963303-41963303
35	GLI3	NM_000168.6(GLI3):c.*66G>T	SNV	Uncertain Significance	360219	rs886062334	GRCh37: 7:42003862-42003862 GRCh38: 7:41964264-41964264
36	CC2D2A	NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)	SNV	Uncertain Significance	56304	rs386833752	GRCh37: 4:15569352-15569352 GRCh38: 4:15567729-15567729
37	GLI3	NM_000168.6(GLI3):c.1648-7T>A	SNV	Uncertain Significance	908068	rs1787547025	GRCh37: 7:42017328-42017328 GRCh38: 7:41977729-41977729
38	GLI3	NM_000168.6(GLI3):c.*2612A>G	SNV	Uncertain Significance	908536	rs1583724689	GRCh37: 7:42001316-42001316 GRCh38: 7:41961718-41961718
39	GLI3	NM_000168.6(GLI3):c.*2089G>A	SNV	Uncertain Significance	908612	rs865942966	GRCh37: 7:42001839-42001839 GRCh38: 7:41962241-41962241
40	GLI3	NM_000168.6(GLI3):c.*1399T>C	SNV	Uncertain Significance	908682	rs1160002644	GRCh37: 7:42002529-42002529 GRCh38: 7:41962931-41962931
41	GLI3	NM_000168.6(GLI3):c.*889T>C	SNV	Uncertain Significance	908742	rs1318388633	GRCh37: 7:42003039-42003039 GRCh38: 7:41963441-41963441
42	GLI3	NM_000168.6(GLI3):c.*386A>G	SNV	Uncertain Significance	908799	rs951401550	GRCh37: 7:42003542-42003542 GRCh38: 7:41963944-41963944
43	GLI3	NM_000168.6(GLI3):c.*333A>G	SNV	Uncertain Significance	908800	rs1787080355	GRCh37: 7:42003595-42003595 GRCh38: 7:41963997-41963997
44	GLI3	NM_000168.6(GLI3):c.*311T>A	SNV	Uncertain Significance	908802	rs1189349323	GRCh37: 7:42003617-42003617 GRCh38: 7:41964019-41964019
45	GLI3	NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser)	SNV	Uncertain Significance	908861	rs1787101579	GRCh37: 7:42004044-42004044 GRCh38: 7:41964446-41964446
46	GLI3	NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu)	SNV	Uncertain Significance	908915	rs756685313	GRCh37: 7:42004655-42004655 GRCh38: 7:41965057-41965057
47	GLI3	NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu)	SNV	Uncertain Significance	909046	rs780814828	GRCh37: 7:42005606-42005606 GRCh38: 7:41966008-41966008
48	GLI3	NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln)	SNV	Uncertain Significance	909047	rs373643864	GRCh37: 7:42005631-42005631 GRCh38: 7:41966033-41966033
49	GLI3	NM_000168.6(GLI3):c.21C>T (p.Ser7=)	SNV	Uncertain Significance	909185	rs770954230	GRCh37: 7:42262832-42262832 GRCh38: 7:42223233-42223233
50	GLI3	NM_000168.6(GLI3):c.*2517G>A	SNV	Uncertain Significance	909401	rs568690074	GRCh37: 7:42001411-42001411 GRCh38: 7:41961813-41961813

Copy number variations for Polydactyly from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	97909	16	14700000	16700000	Duplication or deletion		polydactyly

Sources

Expression for Polydactyly

Search GEO for disease gene expression data for Polydactyly.

Sources

Pathways for Polydactyly

Pathways related to Polydactyly according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.51	TTC8 MKS1 MKKS DYNC2I1 DYNC2H1 CC2D2A
2	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.22	SHH MKS1 GLI3 GLI2 DYNC2H1
3	Ciliary landscape ⁷⁴	12.13	BBS1 BBS2 BBS4 DYNC2I1 MKS1 TTC8
4	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.78	TTC8 MKKS BBS4 BBS2 BBS1
5	Ciliopathies ⁷⁴	11.78	MKS1 GLI3 GLI2 CPLANE1 CC2D2A BBS4
6	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.47	SMAD6 GLI3 GLI2
7	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.46	TTC8 MKS1 MKKS GLI3 DYNC2I1 DYNC2H1
8	Joubert syndrome ⁷⁴	11.43	TTC8 SHH MKS1 CPLANE1 CC2D2A BBS4
9	Development of ureteric collection system ⁷⁴	11.32	SHH GLI3 GLI2
10	Hedgehog signaling pathway ⁷⁴	11.28	SHH GLI3 GLI2
11	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.21	SHH GLI3 GLI2
12	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	11.17	SHH GLI3 GLI2
13	Intraflagellar transport proteins binding to dynein ⁷⁴	10.74	DYNC2I1 DYNC2H1
14	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.52	SHH GLI3

Sources

GO Terms for Polydactyly

Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	centrosome	GO:0005813	10.34	TTC8 MKS1 MKKS DYNC2I1 BRCA2 BBS4
2	ciliary basal body	GO:0036064	10.13	BBS2 BBS4 MKKS MKS1 TTC8
3	cytoskeleton	GO:0005856	10.11	BBS1 BBS2 BBS4 BRCA2 CC2D2A DYNC2H1
4	axoneme	GO:0005930	10.07	GLI3 GLI2 DYNC2H1 BBS1
5	ciliary membrane	GO:0060170	10.06	TTC8 BBS4 BBS2 BBS1
6	motile cilium	GO:0031514	10.06	MKKS GLI2 DYNC2H1 BBS4 BBS2 BBS1
7	ciliary tip	GO:0097542	10.03	GLI3 GLI2 DYNC2I1 DYNC2H1
8	ciliary base	GO:0097546	10.01	GLI3 GLI2 DYNC2I1
9	ciliary transition zone	GO:0035869	9.95	MKS1 CPLANE1 CC2D2A BBS4
10	microtubule organizing center	GO:0005815	9.86	TTC8 MKS1 MKKS DYNC2I1 BRCA2 BBS4
11	BBSome	GO:0034464	9.76	BBS1 BBS2 BBS4 TTC8
12	cell projection	GO:0042995	9.7	TTC8 MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1
13	GLI-SUFU complex	GO:1990788	9.69	GLI3 GLI2
14	cilium	GO:0005929	9.55	TTC8 MKS1 GLI3 GLI2 DYNC2I1 DYNC2H1

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50) (show all 65)

#	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:0007411	10.33	GLI2 GLI3 SHH TTC8
2	hippocampus development	GO:0021766	10.27	MKKS GLI3 BBS4 BBS2 BBS1
3	heart development	GO:0007507	10.27	CC2D2A CPLANE1 DYNC2H1 GLI2 GLI3 MKKS
4	smoothened signaling pathway	GO:0007224	10.26	CC2D2A GLI2 GLI3 SHH
5	cerebral cortex development	GO:0021987	10.26	MKKS BBS4 BBS2 BBS1
6	photoreceptor cell maintenance	GO:0045494	10.22	BBS1 BBS2 BBS4 MKKS
7	cartilage development	GO:0051216	10.21	MKKS BBS2 BBS1
8	gene expression	GO:0010467	10.21	SHH MKKS GLI2 BBS4 BBS2
9	heart looping	GO:0001947	10.2	SHH MKKS BBS4
10	odontogenesis of dentin-containing tooth	GO:0042475	10.19	SHH GLI3 GLI2
11	protein localization to cilium	GO:0061512	10.18	DYNC2H1 BBS4 BBS1
12	negative regulation of GTPase activity	GO:0034260	10.18	TTC8 MKKS BBS4
13	positive regulation of multicellular organism growth	GO:0040018	10.17	BBS2 BBS4 MKKS
14	adult behavior	GO:0030534	10.17	BBS4 BBS2 BBS1
15	brain morphogenesis	GO:0048854	10.17	MKKS BBS4 BBS2 BBS1
16	anterior/posterior pattern specification	GO:0009952	10.16	SHH HOXD13 GLI3 GLI2
17	kidney development	GO:0001822	10.16	SHH GLI3 GLI2 DYNC2H1 CPLANE1 CC2D2A
18	cilium assembly	GO:0060271	10.16	BBS1 BBS2 BBS4 CC2D2A CPLANE1 DYNC2H1
19	fat cell differentiation	GO:0045444	10.15	BBS1 BBS2 BBS4 MKKS SMAD6 TTC8
20	branching morphogenesis of an epithelial tube	GO:0048754	10.14	SHH MKS1 GLI3 GLI2
21	roof of mouth development	GO:0060021	10.13	SHH GLI3 CPLANE1
22	melanosome transport	GO:0032402	10.13	MKKS BBS4 BBS2
23	coronary vasculature development	GO:0060976	10.13	CPLANE1 DYNC2H1 MEGF8 SMAD6
24	response to stimulus	GO:0050896	10.12	MKKS BRCA2 BBS4 BBS2 BBS1
25	forebrain development	GO:0030900	10.12	DYNC2H1 GLI3 SHH
26	regulation of stress fiber assembly	GO:0051492	10.12	BBS4 MKKS TTC8
27	camera-type eye development	GO:0043010	10.11	SHH GLI3 CC2D2A
28	embryonic skeletal system morphogenesis	GO:0048704	10.11	DYNC2I1 GLI3 MEGF8
29	stem cell proliferation	GO:0072089	10.11	SHH GLI3 GLI2 BRCA2
30	pattern specification process	GO:0007389	10.1	SHH HOXD13 GLI3 GLI2
31	dorsal/ventral pattern formation	GO:0009953	10.1	DYNC2H1 GLI2 GLI3 SHH
32	negative regulation of smoothened signaling pathway	GO:0045879	10.07	MEGF8 GLI3 GLI2
33	developmental growth	GO:0048589	10.07	SHH GLI3 GLI2
34	striatum development	GO:0021756	10.06	BBS1 BBS2 BBS4 MKKS
35	negative thymic T cell selection	GO:0045060	10.04	SHH GLI3
36	limb morphogenesis	GO:0035108	10.04	MEGF8 HOXD13 GLI3
37	positive regulation of T cell differentiation in thymus	GO:0033089	10.03	SHH GLI2
38	artery smooth muscle contraction	GO:0014824	10.03	MKKS BBS2
39	hindgut morphogenesis	GO:0007442	10.03	GLI2 GLI3 SHH
40	embryonic limb morphogenesis	GO:0030326	10.03	SHH MEGF8 HOXD13 GLI3 DYNC2H1
41	embryonic digit morphogenesis	GO:0042733	10.03	CPLANE1 GLI2 GLI3 HOXD13 LMBR1 MKS1
42	artery development	GO:0060840	10.02	SHH GLI3
43	positive regulation of alpha-beta T cell differentiation	GO:0046638	10.02	SHH GLI3
44	alpha-beta T cell differentiation	GO:0046632	10.02	SHH GLI3
45	determination of left/right symmetry	GO:0007368	10.02	SHH MKS1 MKKS MEGF8 DYNC2H1 CC2D2A
46	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	10.01	BBS2 BBS4 MKKS
47	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	10.01	MKKS BBS4 BBS2 BBS1
48	ventral midline development	GO:0007418	9.99	GLI2 SHH
49	smoothened signaling pathway involved in ventral spinal cord interneuron specification	GO:0021775	9.98	GLI2 GLI3
50	negative regulation of alpha-beta T cell differentiation	GO:0046639	9.98	GLI3 SHH

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II-specific DNA-binding transcription factor binding	GO:0061629	9.32	TTC8 MKKS BBS4 BBS2 BBS1
2	patched binding	GO:0005113	9.26	SHH BBS1

Sources

Sources for Polydactyly

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PLY006 MIFTS: 59	Polydactyly Categories: Bone diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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